{"openapi":"3.1.0","info":{"title":"Enigma Clinical Platform API","version":"Enigma Clinical v1","summary":"HTTP API behind the Enigma Clinical web application.","description":"The JSON endpoints the Enigma Clinical web application uses. Most return public reference data and need no credentials. Cohort data needs a Firebase ID token (`Authorization: Bearer …`) for a signed-in, and for row-level data an administrator-approved, account. There are no API keys yet, and response shapes may change between releases. Variant IDs are GRCh38 `chrom-pos-ref-alt`. Requests are rate-limited with a token bucket per signed-in account (from the Bearer token) or per IP address. Cohort queries and registries (/api/hasura, /api/knockouts, /api/founder-variants, /api/resolve, /api/stats): bursts of 120, then 120 a minute; gnomAD proxy (/api/gnomad/*): bursts of 600, then 1200 a minute; API description (/api/openapi.json): bursts of 600, then 1200 a minute; Everything else (all other /api/* routes): bursts of 300, then 300 a minute. Over the limit the API answers 429 with Retry-After; every /api response carries X-RateLimit-Limit, X-RateLimit-Remaining and X-RateLimit-Reset. Limits apply per server instance and may change.","contact":{"name":"Enigma Clinical","url":"https://clinical.enigmagenomics.com/contact/"}},"servers":[{"url":"https://clinical.enigmagenomics.com"}],"tags":[{"name":"Search","description":"Turn free text into genes, variants and other targets."},{"name":"Cohort","description":"Saudi cohort data. Aggregates only; sample identifiers are never returned."},{"name":"Variant","description":"Annotation and evidence for one GRCh38 small variant (chrom-pos-ref-alt)."},{"name":"Gene","description":"Gene-level annotation, expression, somatic and structural context."},{"name":"Structural variants","description":"SVs, CNVs, insertions, MEIs and translocations."},{"name":"Pharmacogenomics","description":"CPIC gene–drug pairs, star alleles and drug facts."},{"name":"Disease & phenotype","description":"Rare-disease catalogue, MONDO diseases and HPO phenotypes."},{"name":"Literature","description":"Articles, citations and variants mentioned in them."},{"name":"Oncology","description":"Somatic evidence, oncogenicity facts, tumour types, fusions and trials."},{"name":"Tools","description":"Coordinate conversion between genome builds."},{"name":"Account","description":"Records kept for the signed-in account."},{"name":"Meta","description":"This description of the API."}],"paths":{"/api/search/":{"get":{"operationId":"search","tags":["Search"],"summary":"Gene and rsID suggestions","description":"Fast suggestions for the search box (genes and rsIDs, via gnomAD). Other formats return no results and the parsed kind, so callers know to ask /api/resolve.\n\nCaching: Server data cache and CDN.","parameters":[{"name":"q","in":"query","required":true,"description":"Search text (truncated to a safe length).","schema":{"type":"string"},"example":"BRCA"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/resolve/":{"get":{"operationId":"resolve","tags":["Search"],"summary":"Resolve any supported query","description":"Turns any supported search format (gene, variant ID, rsID, HGVS c./p./g., ClinGen allele, region, cytoband, ISCN, SV, HPO/MONDO/OMIM/Orphanet ID …) into canonical targets: { query, kind, recognisedAs, results[], message? }.\n\nCaching: Server data cache and CDN; explained misses are cached too.","parameters":[{"name":"q","in":"query","required":true,"description":"Query in any supported format.","schema":{"type":"string"},"example":"NM_000546.6:c.743G>A"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/hasura/":{"post":{"operationId":"hasura","tags":["Cohort"],"summary":"Read-only GraphQL proxy","description":"Forwards a read-only GraphQL query to the Saudi cohort database. Mutations, subscriptions and introspection are rejected. Frequencies are stored as percentages.\n\nCaching: Not cached.","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"401":{"description":"Missing or invalid Firebase ID token","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"403":{"description":"Account not approved","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[{"firebaseIdToken":[]}],"x-sgp-auth":"approved","requestBody":{"required":true,"content":{"application/json":{"schema":{"$ref":"#/components/schemas/HasuraRequest"},"example":{"target":"sgp","query":"query { exomes_samples24dec(where: {symbol: {_eq: \"HBB\"}}, limit: 5) { variant_id allele_count allele_number allele_frequency } }","variables":{}}}}}}},"/api/igv/sgp/":{"get":{"operationId":"igv-sgp","tags":["Cohort"],"summary":"Cohort variants in a window","description":"Variant ID, cohort allele frequency (fraction) and first VEP consequence for every cohort variant in a window; used by the genome browser track.\n\nCaching: Private browser cache only.","parameters":[{"name":"chrom","in":"query","required":true,"description":"Chromosome without \"chr\".","schema":{"type":"string"},"example":"11"},{"name":"start","in":"query","required":true,"description":"Window start (1-based).","schema":{"type":"string"},"example":"5226900"},{"name":"end","in":"query","required":true,"description":"Window end.","schema":{"type":"string"},"example":"5227100"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"401":{"description":"Missing or invalid Firebase ID token","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"403":{"description":"Account not approved","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[{"firebaseIdToken":[]}],"x-sgp-auth":"approved"}},"/api/insights/":{"get":{"operationId":"insights","tags":["Cohort"],"summary":"Cohort statistics","description":"Variants by consequence and ClinVar group, novelty against gnomAD, frequency spectrum, top genes and phenotype counts. Counts of fewer than five individuals are withheld.","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"401":{"description":"Missing or invalid Firebase ID token","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[{"firebaseIdToken":[]}],"x-sgp-auth":"signedIn"}},"/api/knockouts/":{"get":{"operationId":"knockouts","tags":["Cohort"],"summary":"Homozygous loss-of-function registry","description":"Every cohort site with at least one homozygous individual and a predicted loss-of-function VEP consequence (transcript ablation, splice acceptor/donor, stop gained, frameshift, start lost): { terms[], rows[], truncated, generatedAt }. Site-level rows only (variant, gene, allele counts, homozygotes, gnomAD max AF, consequence, ClinVar); sample identifiers are never returned. LOFTEE confidence is not applied, so some sites are low-confidence LoF. `truncated` is true when the list hit its 30,000-row ceiling.\n\nCaching: Private browser cache for an hour; the server keeps the assembled list for a day.","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"401":{"description":"Missing or invalid Firebase ID token","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"403":{"description":"Account not approved","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"503":{"description":"Account approval could not be checked","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[{"firebaseIdToken":[]}],"x-sgp-auth":"approved"}},"/api/clinvar-discordance/":{"get":{"operationId":"clinvar-discordance","tags":["Cohort"],"summary":"ClinVar discordance alerts","description":"Cohort sites whose ClinVar germline classification the cohort argues against (P/LP above BA1 or BS1, P/LP homozygotes in dominant-only genes, B/LB loss-of-function in haploinsufficient genes), each with reason codes and a severity.\n\nCaching: One day on the server; one hour in the browser (private).\n\nSources: ClinVar, GenCC, ClinGen Dosage Sensitivity.","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"401":{"description":"Missing or invalid Firebase ID token","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"403":{"description":"Account not approved","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[{"firebaseIdToken":[]}],"x-sgp-auth":"approved"}},"/api/stats/":{"get":{"operationId":"stats","tags":["Cohort"],"summary":"Headline counts","description":"Live aggregate counts from the cohort table for the home page.\n\nCaching: One day, server and CDN.","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/founder-variants/":{"get":{"operationId":"founder-variants","tags":["Cohort"],"summary":"Founder variant registry","description":"ClinVar pathogenic or likely pathogenic cohort sites enriched at least 10× over the gnomAD v4 maximum genetic-ancestry-group AF, or absent from gnomAD with AC ≥ 2: { criteria, rows[], truncated, generatedAt }. Site-level rows only; frequencies are percentages.\n\nCaching: One day on the server; private one hour in the browser.","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"401":{"description":"Missing or invalid Firebase ID token","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"403":{"description":"Account not approved","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[{"firebaseIdToken":[]}],"x-sgp-auth":"approved"}},"/api/gnomad/variant/{id}/":{"get":{"operationId":"gnomad-variant","tags":["Variant"],"summary":"gnomAD v4 variant","description":"gnomAD v4 frequencies by genetic-ancestry group, consequences and ClinVar for one variant.\n\nCaching: One day.\n\nSources: gnomAD (ODbL).","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/clinvar/variant/{id}/":{"get":{"operationId":"clinvar-variant","tags":["Variant"],"summary":"Live ClinVar record","description":"Germline classification, somatic clinical impact and oncogenicity, matched on the exact allele.\n\nSources: NCBI E-utilities (public domain).","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/classification/variant/{id}/":{"get":{"operationId":"classification-variant","tags":["Variant"],"summary":"Automated ACMG/AMP classification","description":"Points-based germline classification from licence-free public evidence, with ClinGen CSpec rules where implemented and expert-panel classifications. Research use only; each source fails soft and unreachable sources are listed.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/myvariant/variant/{id}/":{"get":{"operationId":"myvariant-variant","tags":["Variant"],"summary":"In-silico predictors (dbNSFP)","description":"Licence-free dbNSFP predictor scores via MyVariant.info. \"No record\" is `available: false`, not a 404.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/protein/transcripts/{id}/":{"get":{"operationId":"protein-transcripts","tags":["Variant"],"summary":"Transcript consequences","description":"Every Ensembl and RefSeq transcript the variant falls in or near (Ensembl VEP): HGVS c./p., consequence, exon/intron, MANE flags.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/gtex/variant/{id}/":{"get":{"operationId":"gtex-variant","tags":["Variant"],"summary":"GTEx eQTLs and sQTLs","description":"Significant single-tissue eQTLs and sQTLs (GTEx V11) for the exact allele. Empty lists mean no significant QTL.\n\nCaching: One week.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/variant-sv/{id}/":{"get":{"operationId":"variant-sv","tags":["Variant"],"summary":"Structural context of a position","description":"gnomAD-SV and exome CNV records overlapping the position, ClinGen dosage regions and genes containing it, and gnomAD coverage.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/variant-sv/{id}/clinvar/":{"get":{"operationId":"variant-sv-clinvar","tags":["Variant"],"summary":"ClinVar SVs over a position","description":"Live ClinVar structural records (≥ 50 bp) that overlap the variant’s span.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/rare-disease/variant/{id}/":{"get":{"operationId":"rare-disease-variant","tags":["Variant"],"summary":"Conditions for a variant","description":"Conditions ClinVar records for the variant with MONDO, Orphanet and OMIM IDs, the aggregate classification per condition and the gene–disease validity of `gene`.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"},{"name":"gene","in":"query","required":false,"description":"Gene symbol hint from the page (optional).","schema":{"type":"string"},"example":"BRAF"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/gnomad/gene/{id}/":{"get":{"operationId":"gnomad-gene","tags":["Gene"],"summary":"gnomAD gene annotation","description":"Gene model, constraint and transcripts from gnomAD.\n\nCaching: One day, server and CDN.","parameters":[{"name":"id","in":"path","required":true,"description":"Gene symbol or Ensembl gene ID.","schema":{"type":"string"},"example":"ENSG00000157764"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/gnomad/gene/{id}/clinvar/":{"get":{"operationId":"gnomad-gene-clinvar","tags":["Gene"],"summary":"ClinVar variants in a gene","description":"ClinVar variants in the gene, via gnomAD.\n\nCaching: One day.","parameters":[{"name":"id","in":"path","required":true,"description":"Ensembl gene ID.","schema":{"type":"string"},"example":"ENSG00000157764"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/gnomad/gene/{id}/coverage/":{"get":{"operationId":"gnomad-gene-coverage","tags":["Gene"],"summary":"gnomAD read depth over a gene","description":"gnomAD v4 exome and genome read depth over the coding exons of the gene's MANE Select (else canonical) transcript: per-exon summaries and a binned profile.\n\nCaching: One day.\n\nSources: gnomAD (ODbL).","parameters":[{"name":"id","in":"path","required":true,"description":"Ensembl gene ID or gene symbol.","schema":{"type":"string"},"example":"ENSG00000157764"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/gnomad/gene/{id}/rmc/":{"get":{"operationId":"gnomad-gene-rmc","tags":["Gene"],"summary":"Regional missense constraint","description":"gnomAD v2.1.1 regional missense constraint (published on GRCh37; amino-acid ranges are build-independent). `status` says whether regions were found, the gene was searched without evidence, or it was not searched. 404 when gnomAD v2 has no such gene.\n\nCaching: One day.\n\nSources: gnomAD (ODbL).","parameters":[{"name":"id","in":"path","required":true,"description":"Ensembl gene ID or gene symbol.","schema":{"type":"string"},"example":"ENSG00000157764"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/gnomad/transcript/{id}/":{"get":{"operationId":"gnomad-transcript","tags":["Gene"],"summary":"Transcript","description":"One transcript from gnomAD with its MANE Select / Plus Clinical status. 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Counts and public identifiers only.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/somatic/oncogenicity/{id}/":{"get":{"operationId":"somatic-oncogenicity","tags":["Oncology"],"summary":"Oncogenicity and tier evidence","description":"Licence-free facts for the SVIG-UK oncogenicity and AMP/ASCO/CAP tier engines, which run in the browser.","parameters":[{"name":"id","in":"path","required":true,"description":"GRCh38 small variant as chrom-pos-ref-alt.","schema":{"type":"string"},"example":"7-140753336-A-T"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/somatic/oncotree/":{"get":{"operationId":"somatic-oncotree","tags":["Oncology"],"summary":"OncoTree tumour types","description":"Bundled OncoTree tumour types for the tumour-type picker.\n\nCaching: One week.\n\nSources: OncoTree (CC BY 4.0).","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/fusion/{id}/":{"get":{"operationId":"fusion","tags":["Oncology"],"summary":"Gene fusion","description":"Evidence for an ordered gene pair.","parameters":[{"name":"id","in":"path","required":true,"description":"Ordered gene pair (5′::3′).","schema":{"type":"string"},"example":"BCR::ABL1"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/trials/":{"get":{"operationId":"trials","tags":["Oncology"],"summary":"Clinical trials","description":"ClinicalTrials.gov search (one page of 100 studies), the merged list for a variant or gene page (`scope`), or the country facet (`facet=countries`). A search needs at least one of cond, term, intr, locn or country; filters use ClinicalTrials.gov's own codes, so results match the same search on clinicaltrials.gov. Each study carries its eligible sex, minimum and maximum age and standard age groups (`ageGroups`: CHILD, ADULT, OLDER_ADULT).\n\nCaching: Six hours.\n\nSources: ClinicalTrials.gov (public domain).","parameters":[{"name":"cond","in":"query","required":false,"description":"Condition.","schema":{"type":"string"},"example":"Breast Cancer"},{"name":"term","in":"query","required":false,"description":"Other terms (gene, protein change, keyword).","schema":{"type":"string"}},{"name":"intr","in":"query","required":false,"description":"Intervention.","schema":{"type":"string"}},{"name":"locn","in":"query","required":false,"description":"Location text (city, region).","schema":{"type":"string"}},{"name":"country","in":"query","required":false,"description":"Country name or \"gulf\".","schema":{"type":"string"},"example":"Saudi Arabia"},{"name":"status","in":"query","required":false,"description":"Comma-separated status codes (rec, not, enr, act, ava, com, sus, ter, wit, unk …), or \"active\". In scope lists: active or all.","schema":{"type":"string"},"example":"rec,not"},{"name":"phase","in":"query","required":false,"description":"Comma-separated phases (0, 1, 2, 3, 4, NA).","schema":{"type":"string"},"example":"2,3"},{"name":"type","in":"query","required":false,"description":"Comma-separated study types (int, obs, exp).","schema":{"type":"string"}},{"name":"age","in":"query","required":false,"description":"Comma-separated age groups the study accepts (ClinicalTrials.gov standard ages): child (birth–17), adult (18–64), older (65+).","schema":{"type":"string"},"example":"child"},{"name":"sex","in":"query","required":false,"description":"Studies that accept this sex (studies open to all included). Leave out for all.","schema":{"type":"string","enum":["f","m"]}},{"name":"funder","in":"query","required":false,"description":"Comma-separated funder types (industry, nih, fed, other).","schema":{"type":"string"}},{"name":"sort","in":"query","required":false,"description":"Sort order (default relevance).","schema":{"type":"string","enum":["relevance","updated","start","enrolment"]}},{"name":"scope","in":"query","required":false,"description":"Merged list for a page.","schema":{"type":"string","enum":["variant","gene"]}},{"name":"variant","in":"query","required":false,"description":"Variant ID when scope=variant.","schema":{"type":"string"}},{"name":"gene","in":"query","required":false,"description":"Gene symbol when scope is set.","schema":{"type":"string"}},{"name":"hgvsp","in":"query","required":false,"description":"HGVS protein change when scope=variant, e.g. p.Val600Glu.","schema":{"type":"string"}},{"name":"mode","in":"query","required":false,"description":"Context list mode when scope is set.","schema":{"type":"string","enum":["germline","somatic"]}},{"name":"facet","in":"query","required":false,"description":"Facet list instead of studies.","schema":{"type":"string","enum":["countries"]}},{"name":"page","in":"query","required":false,"description":"Next-page token.","schema":{"type":"string"}}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/repeat/{locus}/":{"get":{"operationId":"repeat","tags":["Gene"],"summary":"STR allele-size distributions","description":"gnomAD v4 short-tandem-repeat allele sizes for one catalogued locus, by repeat unit and genetic-ancestry group.\n\nSources: gnomAD (ODbL).","parameters":[{"name":"locus","in":"path","required":true,"description":"Catalogued repeat locus ID.","schema":{"type":"string"},"example":"HTT"}],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}},"/api/liftover/":{"get":{"operationId":"liftover","tags":["Tools"],"summary":"Lift one position, variant, region or SV","description":"Converts one line between GRCh38 (hg38), GRCh37 (b37) and hg19: a small variant (11-5227002-T-A, chr11:5227002:T:A), a position (7-140753336), a region (chr7:140753336-140753500) or an SV/MEI ID (8-127734450-127764981-DUP). Returns { from, to, results[1], sources }. A line that cannot be read or lifted comes back as a `failed` result, not a 400; reference bases are checked against the target build.\n\nCaching: Server data cache and CDN; unreadable lines are kept for an hour.\n\nSources: Ensembl REST assembly map and sequence.","parameters":[{"name":"q","in":"query","required":true,"description":"One line (at most 300 characters).","schema":{"type":"string"},"example":"11-5227002-T-A"},{"name":"from","in":"query","required":false,"description":"Source build (default hg38). 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The account comes from the verified ID token, never from the body; the server sets the time and the chain hash. Any signed-in account may log its own activity, at most 60 events a minute. Returns 201 { stored: true, seq, hash }, or 202 { stored: false, reason } when the log store is not configured (local development).\n\nCaching: Never cached (no-store).","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"201":{"description":"Event stored: { stored, seq, hash }","content":{"application/json":{"schema":{"type":"object"}}}},"202":{"description":"Event accepted but not stored: { stored: false, reason }","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"401":{"description":"Missing or invalid Firebase ID token","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"429":{"description":"Too many audit events from this account","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"503":{"description":"Audit log unavailable","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[{"firebaseIdToken":[]}],"x-sgp-auth":"signedIn","requestBody":{"required":true,"content":{"application/json":{"schema":{"$ref":"#/components/schemas/AuditEvent"},"example":{"action":"view_variant","target":"7-140753336-A-T"}}}}}},"/api/openapi.json/":{"get":{"operationId":"openapi","tags":["Meta"],"summary":"This OpenAPI document","description":"OpenAPI 3.1 description of every endpoint listed here.\n\nCaching: One hour.","parameters":[],"responses":{"200":{"description":"OK","content":{"application/json":{"schema":{"type":"object"}}}},"400":{"description":"Invalid parameters","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}},"502":{"description":"An upstream source could not be reached","content":{"application/json":{"schema":{"$ref":"#/components/schemas/Error"}}}}},"security":[],"x-sgp-auth":"public"}}},"components":{"securitySchemes":{"firebaseIdToken":{"type":"http","scheme":"bearer","bearerFormat":"JWT","description":"Firebase Authentication ID token of the signed-in user (getIdToken() in the Firebase SDK). 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